Incidental Mutation 'IGL01612:Ift80'
ID |
92146 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ift80
|
Ensembl Gene |
ENSMUSG00000027778 |
Gene Name |
intraflagellar transport 80 |
Synonyms |
4921524P20Rik, Wdr56 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
IGL01612
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
68799832-68911903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 68870996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 200
(N200T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029347]
[ENSMUST00000107812]
[ENSMUST00000148031]
[ENSMUST00000154741]
[ENSMUST00000169064]
|
AlphaFold |
Q8K057 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029347
AA Change: N200T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029347 Gene: ENSMUSG00000027778 AA Change: N200T
Domain | Start | End | E-Value | Type |
WD40
|
4 |
41 |
1.43e0 |
SMART |
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
WD40
|
95 |
134 |
9.38e-5 |
SMART |
WD40
|
136 |
176 |
2.75e1 |
SMART |
WD40
|
177 |
216 |
1.42e-4 |
SMART |
WD40
|
219 |
256 |
1.56e-1 |
SMART |
WD40
|
258 |
297 |
2.75e1 |
SMART |
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107812
AA Change: N200T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103442 Gene: ENSMUSG00000027778 AA Change: N200T
Domain | Start | End | E-Value | Type |
WD40
|
4 |
41 |
1.43e0 |
SMART |
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
WD40
|
95 |
134 |
9.38e-5 |
SMART |
WD40
|
136 |
176 |
2.75e1 |
SMART |
WD40
|
177 |
216 |
1.42e-4 |
SMART |
WD40
|
219 |
256 |
1.56e-1 |
SMART |
WD40
|
258 |
297 |
2.75e1 |
SMART |
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136448
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148031
|
SMART Domains |
Protein: ENSMUSP00000122919 Gene: ENSMUSG00000027778
Domain | Start | End | E-Value | Type |
WD40
|
4 |
41 |
1.43e0 |
SMART |
Blast:WD40
|
46 |
93 |
3e-10 |
BLAST |
WD40
|
95 |
134 |
9.38e-5 |
SMART |
Blast:WD40
|
136 |
159 |
1e-8 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152502
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154741
AA Change: N200T
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118406 Gene: ENSMUSG00000027778 AA Change: N200T
Domain | Start | End | E-Value | Type |
WD40
|
4 |
41 |
1.43e0 |
SMART |
Blast:WD40
|
46 |
93 |
9e-10 |
BLAST |
WD40
|
95 |
134 |
9.38e-5 |
SMART |
WD40
|
136 |
176 |
2.75e1 |
SMART |
WD40
|
177 |
209 |
2.12e2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169064
AA Change: N200T
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133263 Gene: ENSMUSG00000027778 AA Change: N200T
Domain | Start | End | E-Value | Type |
WD40
|
4 |
41 |
1.43e0 |
SMART |
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
WD40
|
95 |
134 |
9.38e-5 |
SMART |
WD40
|
136 |
176 |
2.75e1 |
SMART |
WD40
|
177 |
216 |
1.42e-4 |
SMART |
WD40
|
219 |
256 |
1.56e-1 |
SMART |
WD40
|
258 |
297 |
2.75e1 |
SMART |
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176754
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010] PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele exhibit partial perinatal lethality, decreased body size, postnatal growth retardation, shortened long bones, constricted thoracic cage, periaxial polydactyly, and small cranium. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,381,988 (GRCm39) |
T1326A |
possibly damaging |
Het |
Afg3l1 |
C |
T |
8: 124,221,592 (GRCm39) |
R484C |
probably benign |
Het |
Atg2a |
C |
A |
19: 6,302,514 (GRCm39) |
Q946K |
probably benign |
Het |
Cdh20 |
T |
C |
1: 104,921,895 (GRCm39) |
Y731H |
probably benign |
Het |
Cdk15 |
A |
G |
1: 59,328,932 (GRCm39) |
D282G |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 31,005,164 (GRCm39) |
S1073P |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,355,889 (GRCm39) |
|
probably benign |
Het |
Evi2a |
T |
A |
11: 79,417,978 (GRCm39) |
R211W |
probably damaging |
Het |
Fmo1 |
T |
A |
1: 162,661,168 (GRCm39) |
I372F |
probably benign |
Het |
Glyctk |
T |
C |
9: 106,032,471 (GRCm39) |
D514G |
probably damaging |
Het |
Gmnc |
G |
A |
16: 26,779,069 (GRCm39) |
Q313* |
probably null |
Het |
Grik1 |
T |
C |
16: 87,743,623 (GRCm39) |
T520A |
probably damaging |
Het |
Gtsf2 |
A |
T |
15: 103,353,340 (GRCm39) |
C9S |
probably damaging |
Het |
Ints1 |
A |
G |
5: 139,742,047 (GRCm39) |
S1771P |
probably benign |
Het |
Lrba |
A |
G |
3: 86,683,484 (GRCm39) |
T2769A |
possibly damaging |
Het |
Lrfn2 |
G |
T |
17: 49,377,425 (GRCm39) |
V169L |
possibly damaging |
Het |
Mei1 |
G |
A |
15: 81,973,753 (GRCm39) |
R80H |
probably damaging |
Het |
Nbeal2 |
A |
T |
9: 110,473,746 (GRCm39) |
V31E |
probably damaging |
Het |
Ncapd2 |
G |
T |
6: 125,154,835 (GRCm39) |
P546T |
probably benign |
Het |
Or52l1 |
A |
G |
7: 104,829,929 (GRCm39) |
V212A |
probably damaging |
Het |
Pan3 |
T |
C |
5: 147,390,052 (GRCm39) |
|
probably benign |
Het |
Rab3b |
T |
A |
4: 108,781,223 (GRCm39) |
|
probably null |
Het |
Rabl2 |
T |
C |
15: 89,467,615 (GRCm39) |
K119E |
probably benign |
Het |
Reln |
A |
G |
5: 22,101,928 (GRCm39) |
V3334A |
probably damaging |
Het |
Rfx1 |
A |
G |
8: 84,819,601 (GRCm39) |
|
probably null |
Het |
Rhod |
T |
C |
19: 4,476,247 (GRCm39) |
Y168C |
probably damaging |
Het |
Sag |
T |
C |
1: 87,733,071 (GRCm39) |
I13T |
probably damaging |
Het |
Sat2 |
T |
C |
11: 69,513,789 (GRCm39) |
|
probably null |
Het |
Scn5a |
A |
T |
9: 119,315,091 (GRCm39) |
D1872E |
possibly damaging |
Het |
Sh2b2 |
T |
G |
5: 136,260,656 (GRCm39) |
I187L |
probably benign |
Het |
Slit3 |
G |
A |
11: 35,591,211 (GRCm39) |
G1341D |
possibly damaging |
Het |
Tmed11 |
A |
T |
5: 108,927,750 (GRCm39) |
S95T |
possibly damaging |
Het |
Tmem186 |
A |
G |
16: 8,453,733 (GRCm39) |
V176A |
possibly damaging |
Het |
Trim12c |
A |
T |
7: 103,997,422 (GRCm39) |
S45T |
possibly damaging |
Het |
Ube4b |
C |
A |
4: 149,468,275 (GRCm39) |
R167L |
probably damaging |
Het |
Zfp335 |
A |
T |
2: 164,752,540 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ift80 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00766:Ift80
|
APN |
3 |
68,821,986 (GRCm39) |
nonsense |
probably null |
|
IGL01020:Ift80
|
APN |
3 |
68,871,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01544:Ift80
|
APN |
3 |
68,898,115 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01743:Ift80
|
APN |
3 |
68,869,629 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02187:Ift80
|
APN |
3 |
68,892,789 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02381:Ift80
|
APN |
3 |
68,869,653 (GRCm39) |
splice site |
probably null |
|
IGL02407:Ift80
|
APN |
3 |
68,805,869 (GRCm39) |
missense |
probably benign |
|
IGL02510:Ift80
|
APN |
3 |
68,805,876 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02512:Ift80
|
APN |
3 |
68,835,058 (GRCm39) |
critical splice donor site |
probably null |
|
R0091:Ift80
|
UTSW |
3 |
68,822,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R0212:Ift80
|
UTSW |
3 |
68,847,506 (GRCm39) |
missense |
probably benign |
0.05 |
R0348:Ift80
|
UTSW |
3 |
68,843,232 (GRCm39) |
missense |
probably benign |
|
R0357:Ift80
|
UTSW |
3 |
68,821,986 (GRCm39) |
nonsense |
probably null |
|
R1381:Ift80
|
UTSW |
3 |
68,822,116 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1419:Ift80
|
UTSW |
3 |
68,847,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Ift80
|
UTSW |
3 |
68,823,490 (GRCm39) |
missense |
probably benign |
0.06 |
R1899:Ift80
|
UTSW |
3 |
68,825,846 (GRCm39) |
missense |
probably benign |
0.00 |
R1926:Ift80
|
UTSW |
3 |
68,823,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R2013:Ift80
|
UTSW |
3 |
68,898,117 (GRCm39) |
missense |
possibly damaging |
0.62 |
R3894:Ift80
|
UTSW |
3 |
68,825,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R4214:Ift80
|
UTSW |
3 |
68,898,141 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4290:Ift80
|
UTSW |
3 |
68,871,023 (GRCm39) |
missense |
probably damaging |
0.96 |
R4303:Ift80
|
UTSW |
3 |
68,801,507 (GRCm39) |
missense |
probably benign |
0.15 |
R4361:Ift80
|
UTSW |
3 |
68,870,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R4576:Ift80
|
UTSW |
3 |
68,857,863 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4596:Ift80
|
UTSW |
3 |
68,898,092 (GRCm39) |
missense |
probably benign |
0.01 |
R4652:Ift80
|
UTSW |
3 |
68,822,273 (GRCm39) |
missense |
probably benign |
0.32 |
R4654:Ift80
|
UTSW |
3 |
68,825,870 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4720:Ift80
|
UTSW |
3 |
68,869,623 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4865:Ift80
|
UTSW |
3 |
68,898,092 (GRCm39) |
missense |
probably benign |
0.01 |
R4885:Ift80
|
UTSW |
3 |
68,857,829 (GRCm39) |
missense |
probably damaging |
0.98 |
R5357:Ift80
|
UTSW |
3 |
68,898,113 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5561:Ift80
|
UTSW |
3 |
68,875,196 (GRCm39) |
missense |
probably benign |
0.00 |
R5589:Ift80
|
UTSW |
3 |
68,838,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R5806:Ift80
|
UTSW |
3 |
68,857,809 (GRCm39) |
missense |
probably benign |
0.09 |
R6910:Ift80
|
UTSW |
3 |
68,835,068 (GRCm39) |
missense |
probably benign |
0.01 |
R6962:Ift80
|
UTSW |
3 |
68,901,878 (GRCm39) |
start gained |
probably benign |
|
R7157:Ift80
|
UTSW |
3 |
68,898,277 (GRCm39) |
nonsense |
probably null |
|
R7452:Ift80
|
UTSW |
3 |
68,901,615 (GRCm39) |
splice site |
probably null |
|
R7504:Ift80
|
UTSW |
3 |
68,825,338 (GRCm39) |
missense |
probably damaging |
0.99 |
R8077:Ift80
|
UTSW |
3 |
68,823,478 (GRCm39) |
missense |
probably benign |
0.01 |
R8435:Ift80
|
UTSW |
3 |
68,892,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R8821:Ift80
|
UTSW |
3 |
68,869,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R8831:Ift80
|
UTSW |
3 |
68,869,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R8897:Ift80
|
UTSW |
3 |
68,857,809 (GRCm39) |
missense |
probably benign |
|
R9222:Ift80
|
UTSW |
3 |
68,825,894 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9328:Ift80
|
UTSW |
3 |
68,847,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |